Canonical Allele Identifier: CA2317699527

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399842T= , CM000681.2:g.1399842T=	GRCh38
NC_000019.9:g.1399841T= , CM000681.1:g.1399841T=	GRCh37
NC_000019.8:g.1350841T=	NCBI36
NG_009785.1:g.6712A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.278A= MANE Select	ENSP00000252288.1:p.Asp93=
ENST00000447102.8:c.278A=	ENSP00000403536.2:p.Asp93=
ENST00000640762.1:c.209A=	ENSP00000492031.1:p.Asp70=
ENST00000252288.6:c.278A=	ENSP00000252288.1:p.Asp93=
ENST00000447102.7:c.278A=	ENSP00000403536.2:p.Asp93=
NM_000156.5:c.278A=	NP_000147.1:p.Asp93=
NM_138924.2:c.278A=	NP_620279.1:p.Asp93=
NM_000156.6:c.278A= MANE Select	NP_000147.1:p.Asp93=
NM_138924.3:c.278A=	NP_620279.1:p.Asp93=